Search results for " DNA"

showing 10 items of 2475 documents

Mitochondrial DNA Haplogroup JT is Related to Impaired Glycaemic Control and Renal Function in Type 2 Diabetic Patients

2018

The association between mitochondrial DNA (mtDNA) haplogroup and risk of type 2 diabetes (T2D) is undetermined and controversial. This study aims to evaluate the impact of the main mtDNA haplogroups on glycaemic control and renal function in a Spanish population of 303 T2D patients and 153 healthy controls. Anthropometrical and metabolic parameters were assessed and mtDNA haplogroup was determined in each individual. Distribution of the different haplogroups was similar in diabetic and healthy populations and, as expected, T2D patients showed poorer glycaemic control and renal function than controls. T2D patients belonging to the JT haplogroup (polymorphism m.4216T&gt

0301 basic medicinemedicine.medical_specialtyendocrine system diseasesgenetic structurestype 2 diabetes mellituslcsh:MedicineRenal functionType 2 diabetesArticleHaplogroupNephropathyDiabetic nephropathy03 medical and health scienceschemistry.chemical_compoundInternal medicineMedicineCreatininebusiness.industrymtDNAlcsh:Rmitochondrial haplogroupType 2 Diabetes Mellitusnutritional and metabolic diseasesGeneral Medicinemedicine.diseaseeye diseaseshumanities030104 developmental biologyEndocrinologychemistryglycemic controlnephropathybusinessHuman mitochondrial DNA haplogroup
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Identification and Characterization of Extracellular Vesicles and Its DNA Cargo Secreted During Murine Embryo Development

2020

Extracellular vesicles (EVs) are known to transport DNA, but their implications in embryonic implantation are unknown. The aim of this study was to investigate EVs production and secretion by preimplantation embryos and assess their DNA cargo. Murine oocytes and embryos were obtained from six- to eight-week-old females, cultured until E4.5 and analyzed using transmission electron microscopy to examine EVs production. EVs were isolated from E4.5-day conditioned media and quantified by nanoparticle tracking analysis, characterized by immunogold, and their DNA cargo sequenced. Multivesicular bodies were observed in murine oocytes and preimplantation embryos together with the secretion of EVs t…

0301 basic medicinemurine blastocystslcsh:QH426-470Embryonic DevelopmentexosomesArticleEmbryo Culture Techniques03 medical and health scienceschemistry.chemical_compoundMice0302 clinical medicineGeneticsmedicineAnimalsSecretionBlastocystParticle Sizeapoptotic bodiesGenetics (clinical)030219 obstetrics & reproductive medicineChemistryADP-Ribosylation FactorsTetraspanin 30BlastocoelHigh-Throughput Nucleotide SequencingEmbryoImmunogold labellingSequence Analysis DNADNAEmbryonic stem cellMicrovesiclesCell biologylcsh:Genetics030104 developmental biologymedicine.anatomical_structureBlastocystADP-Ribosylation Factor 6Culture Media Conditionedembryonic structuresOocytespreimplantation embryosFemaleextracellular vesiclesmicrovesiclesDNAGenes
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HCV NS3 sequencing as a reliable and clinically useful tool for the assessment of genotype and resistance mutations for clinical samples with differe…

2016

OBJECTIVES: This study aims to evaluate the reliability and clinical utility of NS3 sequencing in hepatitis C virus (HCV) 1-infected patients who were candidates to start a PI-containing regimen. METHODS: NS3 protease sequencing was performed by in-house-developed HCV-1 subtype-specific protocols. Phylogenetic analysis was used to test sequencing reliability and concordance with previous genotype/subtype assignment by commercial genotyping assays. RESULTS: Five hundred and sixty-seven HCV plasma samples with quantifiable HCV-RNA from 326 HCV-infected patients were collected between 2011 and 2014. Overall, the success rate of NS3 sequencing was 88.9%. The success rate between the two subtype…

0301 basic medicinens3Genotyping TechniquesvirusesDrug ResistanceHepacivirusViral Nonstructural Proteinsmedicine.disease_causeGastroenterologyTelaprevirchemistry.chemical_compoundgenotype; genotyping techniques; hepacivirus; hepatitis C; humans; RNA viral; retrospective studies; sequence analysis; DNA; viral nonstructural proteins; drug resistance viral; mutation; pharmacology; infectious diseases0302 clinical medicineRetrospective StudieGenotypePharmacology (medical)ViralGenotype; Genotyping Techniques; Hepacivirus; Hepatitis C; Humans; RNA Viral; Retrospective Studies; Sequence Analysis DNA; Viral Nonstructural Proteins; Drug Resistance Viral; MutationProteolytic enzymesvirus diseasesSettore MED/07 - Microbiologia e Microbiologia ClinicaHepatitis Chcv-rna levelsInfectious DiseasesHCV-RNARNA Viral030211 gastroenterology & hepatologySequence Analysismedicine.drugHumanMicrobiology (medical)medicine.medical_specialtyGenotypeHepatitis C virusConcordanceSettore MED/12 - GASTROENTEROLOGIAGenotype; Genotyping Techniques; Hepacivirus; Hepatitis C; Humans; RNA Viral; Retrospective Studies; Sequence Analysis DNA; Viral Nonstructural Proteins; Drug Resistance Viral; Mutation; Pharmacology; Pharmacology (medical); Infectious DiseasesBiology03 medical and health sciencesBoceprevirInternal medicineDrug Resistance ViralmedicinehcvHumansGenotypingGenotyping TechniquesRetrospective StudiesPharmacologyHepaciviruViral Nonstructural ProteinSettore MED/09 - MEDICINA INTERNASequence Analysis DNADNAVirologydigestive system diseases030104 developmental biologychemistrySequence AnalysiMutationRNAGenotyping TechniqueRNA viral
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OSIP1 is a self‐assembling DUF3129 protein required to protect fungal cells from toxins and stressors

2021

International audience; Secreted proteins are key players in fungal physiology and cell protection against external stressing agents and antifungals. Oak stress-induced protein 1 (OSIP1) is a fungal-specific protein with unknown function. By using Podospora anserina and Phanerochaete chrysosporium as models, we combined both in vivo functional approaches and biophysical characterization of OSIP1 recombinant protein. The P. anserina OSIP1(Delta) mutant showed an increased sensitivity to the antifungal caspofungin compared to the wild type. This correlated with the production of a weakened extracellular exopolysaccharide/protein matrix (ECM). Since the recombinant OSIP1 from P. chrysosporium …

0303 health sciencesAntifungal Agentsbiology030306 microbiologyMutantWild typePhanerochaetebiology.organism_classificationMicrobiologyPodospora anserinalaw.inventionCell biologyFungal Proteins03 medical and health sciencesChaotropic agentSecretory proteinPodosporalawRecombinant DNAExtracellular[PHYS.COND.CM-MS]Physics [physics]/Condensed Matter [cond-mat]/Materials Science [cond-mat.mtrl-sci]PhanerochaeteEcology Evolution Behavior and SystematicsSignal Transduction030304 developmental biology
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Balancing of mitochondrial translation through METTL8-mediated m3C modification of mitochondrial tRNAs.

2021

Mitochondria contain a specific translation machinery for the synthesis of mitochondria-encoded respiratory chain components. Mitochondrial tRNAs (mt-tRNAs) are also generated from the mitochondrial DNA and, similar to their cytoplasmic counterparts, are post-transcriptionally modified. Here, we find that the RNA methyltransferase METTL8 is a mitochondrial protein that facilitates 3-methyl-cytidine (m3C) methylation at position C32 of the mt-tRNASer(UCN) and mt-tRNAThr. METTL8 knockout cells show a reduction in respiratory chain activity, whereas overexpression increases activity. In pancreatic cancer, METTL8 levels are high, which correlates with lower patient survival and an enhanced resp…

0303 health sciencesMitochondrial DNAMitochondrial translationRespiratory chainTranslation (biology)[SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry Molecular Biology/Molecular biologyCell BiologyMethylationMitochondrionBiologyCell biology03 medical and health sciences0302 clinical medicineMitochondrial respiratory chain[SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry Molecular Biology/Genomics [q-bio.GN]Mitochondrial ribosomeMettl8 ; Rna Modification ; M(3)c ; Mt-trna ; TranslationMolecular Biology030217 neurology & neurosurgeryComputingMilieux_MISCELLANEOUS030304 developmental biology
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The Genetic History of Northern Europe

2017

Recent ancient DNA studies have revealed that the genetic history of modern Europeans was shaped by a series of migration and admixture events between deeply diverged groups. While these events are well described in Central and Southern Europe, genetic evidence from Northern Europe surrounding the Baltic Sea is still sparse. Here we report genome-wide DNA data from 24 ancient North Europeans ranging from ~7,500 to 200 calBCE spanning the transition from a hunter-gatherer to an agricultural lifestyle, as well as the adoption of bronze metallurgy. We show that Scandinavia was settled after the retreat of the glacial ice sheets from a southern and a northern route, and that the first Scandinav…

0303 health sciencesgeographygeography.geographical_feature_category060102 archaeologyRange (biology)SteppePastoralismGlacier06 humanities and the artsengineering.materialArchaeology03 medical and health sciencesAncient DNABaltic seaengineering0601 history and archaeologyBronzeMesolithic030304 developmental biology
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Pyrazolo[3,4-d][1,2,3]triazolo[1,5-a]pyrimidine: a new ring system through Dimroth rearrangement

2008

Abstract Derivatives of the new ring system pyrazolo[3,4- d ][1,2,3]triazolo[1,5- a ]pyrimidine were synthesized from the corresponding angular isomers, through a Dimroth rearrangement, in quantitative yields. Preliminary computational studies demonstrated that this class of compounds could be a good candidate as DNA intercalating agents.

13-dipolar cycloaddition Dimroth rearrangement docking studies DNA intercalating agentsPyrimidineChemistryStereochemistryOrganic ChemistryIntercalation (chemistry)Settore CHIM/06 - Chimica OrganicaRing (chemistry)BiochemistryDimroth rearrangementSettore CHIM/08 - Chimica FarmaceuticaD-1chemistry.chemical_compoundDrug DiscoveryDNA
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Can copper(II) mediate Hoogsteen base-pairing in a left-handed DNA duplex? A pulse EPR study

2010

Pulse EPR spectroscopy is sued to investigate possible structural features of the copper(II) ion coordinated to poly(dG-dC) poly(dG-dC) in a frozen aqueous solution, and the structural change of the polynucleotide induced by the presence of the metal ion. Two different copper species were identified and their geometry explained by a molecular model. According to this model, one species is exclusively coordinated to a single guanine with the N7 nitrogen atom forming a coordinative bond with the copper. In the other species, a guanine and a cytosine form a ternary complex together with the copper ion. A copper crosslink between the N7 of guanine and N3 of cytosine is proposed as the most prob…

10120 Department of ChemistryCircular dichroismGuanineStereochemistryHoogsteen base pairrame strutture del DNA basi nucleotidiche EPR a impulsi risonanza paramagneticachemistry.chemical_elementTriple-stranded DNA3107 Atomic and Molecular Physics and OpticsNucleobasechemistry.chemical_compoundPolydeoxyribonucleotidesDNA structures540 ChemistryDNA Z-FormPhysical and Theoretical ChemistryBase PairingTernary complexCircular Dichroismstructure elucidationElectron Spin Resonance Spectroscopypulse EPIR spectroscopynucleobasesCopperSettore FIS/07 - Fisica Applicata(Beni Culturali Ambientali Biol.e Medicin)Atomic and Molecular Physics and Opticschemistrycopper1606 Physical and Theoretical ChemistryCytosine
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Molecular characterization of Treponema pallidum subsp. pallidum in Switzerland and France with a new multilocus sequence typing scheme

2018

Syphilis is an important public health problem and an increasing incidence has been noted in recent years. Characterization of strain diversity through molecular data plays a critical role in the epidemiological understanding of this re-emergence. We here propose a new high-resolution multilocus sequence typing (MLST) scheme for Treponema pallidum subsp. pallidum (TPA). We analyzed 30 complete and draft TPA genomes obtained directly from clinical samples or from rabbit propagated strains to identify suitable typing loci and tested the new scheme on 120 clinical samples collected in Switzerland and France. Our analyses yielded three loci with high discriminatory power: TP0136, TP0548, and TP…

10207 Department of AnthropologyArtificial Gene Amplification and ExtensionGene mutationPathology and Laboratory MedicineFrance/epidemiologyBiochemistryPolymerase Chain Reactionlaw.inventionSwitzerland/epidemiologylcsh:SciencePhylogenyMammalsBacterialEukaryotaGeneral MedicineMacrolides/pharmacologyMultilocus Sequence Typing/methods3. Good healthBacterial PathogensNucleic acidsMedical MicrobiologyLeporidsMacrolidesAlleles; Anti-Bacterial Agents/pharmacology; DNA Bacterial/genetics; France/epidemiology; Genome Bacterial; Genotype; Globus Pallidus; Macrolides/pharmacology; Multilocus Sequence Typing/methods; Phylogeny; Polymorphism Single Nucleotide; RNA Ribosomal 23S/genetics; Sequence Analysis DNA/methods; Switzerland/epidemiology; Syphilis/epidemiology; Treponema pallidum/geneticsGeneral Agricultural and Biological SciencesSwitzerlandGenotypeSequence analysis030106 microbiologySexually Transmitted Diseases1100 General Agricultural and Biological SciencesGlobus PallidusMicrobiologyAnti-Bacterial Agents/pharmacology10127 Institute of Evolutionary Biology and Environmental Studies03 medical and health sciences1300 General Biochemistry Genetics and Molecular Biology23S ribosomal RNAGeneticsTypingSyphilisPolymorphismNon-coding RNAMolecular Biology TechniquesMicrobial PathogensMolecular BiologyAllelesRibosomal1000 MultidisciplinaryGenitourinary Infectionslcsh:ROrganismsBiology and Life SciencesDNATropical DiseasesTreponema pallidum/genetics030104 developmental biologyGenetic LociGeneral Biochemistrylcsh:QMultilocus Sequence Typing0301 basic medicineBacterial DiseasesBacterial/geneticslcsh:MedicineTreponematosesGeographical LocationslawGenotypeMedicine and Health Sciences23S/geneticsTreponema PallidumPolymerase chain reactionGeneticsMultidisciplinaryTreponemaGenome10177 Dermatology ClinicSingle NucleotideAnimal Models10218 Institute of Legal MedicineAnti-Bacterial AgentsDNA/methodsEuropeRNA Ribosomal 23SInfectious DiseasesRibosomal RNAExperimental Organism SystemsVertebratesFranceRabbitsPathogensSequence AnalysisResearch ArticleNeglected Tropical DiseasesDNA BacterialCell biologyCellular structures and organellesUrology610 Medicine & healthGenetics and Molecular BiologyBiologyResearch and Analysis MethodsPolymorphism Single NucleotideAnimalsEuropean Unionddc:613Syphilis/epidemiologySequence Analysis DNAbiology.organism_classificationddc:616.8People and PlacesAmniotesMultilocus sequence typingRNARibosomesGenome BacterialPLoS ONE
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Estimating the dwarfing rate of an extinct Sicilian elephant.

2021

Summary Evolution on islands, together with the often extreme phenotypic changes associated with it, has attracted much interest from evolutionary biologists. However, measuring the rate of change of phenotypic traits of extinct animals can be challenging, in part due to the incompleteness of the fossil record. Here, we use combined molecular and fossil evidence to define the minimum and maximum rate of dwarfing in an extinct Mediterranean dwarf elephant from Puntali Cave (Sicily). 1 Despite the challenges associated with recovering ancient DNA from warm climates, 2 we successfully retrieved a mitogenome from a sample with an estimated age between 175,500 and 50,000 years. Our results sugge…

11000301 basic medicineMediterranean climate1300Lineage (evolution)ElephantsExtinction BiologicalDNA MitochondrialGeneral Biochemistry Genetics and Molecular Biology03 medical and health sciences0302 clinical medicineCaveAnimalsDNA AncientSicilyPhylogenygeographygeography.geographical_feature_categoryPalaeoloxodonbiologyFossils2800Phenotypic traitbiology.organism_classificationlanguage.human_languageDwarfing030104 developmental biologyAncient DNAEvolutionary biologylanguageGeneral Agricultural and Biological SciencesSicilian030217 neurology & neurosurgeryCurrent biology : CB
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